List of variants in gene combination LOC130061271, MKS1 reported as likely pathogenic for Meckel syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	rs386834051	0.00001
NM_017777.4(MKS1):c.1A>G (p.Met1Val)	rs1555601787
NM_017777.4(MKS1):c.80+2T>C	rs386834052

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